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Israeli study
The investigators base their recommendation on a study they conducted in the Ashkenazi Jewish population of Israel. Ashkenazi Jews, of central or Eastern European origin, have a higher prevalence of deleterious mutations in BRCA1 and BRCA2 than the general population. Three inherited mutations in the genes account for 11% of breast cancers and 40% of ovarian cancers among Ashkenazi Jews.
To see whether they could determine the risks of breast and ovarian cancers among Ashkenazi Jewish women without considering either their personal or family histories of those cancers, the investigators looked for healthy Ashkenazi Jewish men and screened them for the mutations of interest. They then enrolled adult female relatives of the men identified as carriers of at least one of the mutations and performed genotyping to ascertain the women’s mutational status.
National Breast Cancer Coalition
Frances M. Visco
They found that for women related to men who carried a BRCA1 mutation, the risk of developing either breast or ovarian cancer by age 60 was 60%, and by age 80 was 83%. For women related to BRCA2 mutation carriers, the respective risks were 33% and 76%. They also found that women in more recent birth cohorts had a significantly higher risk than women in older cohorts (P = .006)
The investigators contend that the finding of high cancer risks among women identified through their healthy male relatives “provide an evidence base for initiating a general screening program in the Ashkenazi Jewish population.”
So far, so good. Where it gets controversial, however, is in the following sentences, from the study published in the Proceedings of the National Academy of Sciences:
“BRCA1 and BRCA2 were identified in the mid-1990s, and patent issues that in the United States previously limited complete genomic analysis of BRCA1 and BRCA2 have been largely resolved. We suggest that the time has come to apply our knowledge of these genes to consideration of a general screening program, with the aim of reducing the burden of breast and ovarian cancer.”
But critics say that it is far too early to make such sweeping recommendations, given the potentially harmful consequences.
“I think it is a very bad message for women. It is not based on evidence,” said Frances M. Visco, president of the National Breast Cancer Coalition.
“To extrapolate to all women over 30 from a very small population makes no sense. It can be very harmful, and it is once again trying to give women this ‘one-size-fits-all’ message. To put in place another screening program – we have no idea if it will save lives, we have no idea what the harms can be because we haven’t looked at it in this population. I think it’s the absolute wrong message to get,” she said in an interview.